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Updated: Jul 4, 2025

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病例报告:一位新患者呈现与TRIM32相关的四肢腰带肌肉缩症

Martina Rimoldi¹, Gloria Romagnoli¹, Francesca Magri¹

¹Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Frontiers in neurology

|February 2, 2024

概括

这项研究详细介绍了一例罕见的肢体腰带肌肉缩症8 (LGMDR8) 自体递归8 (LGMDR8) 病例,该病例发生在患有新型化合物异合体TRIM32变异的患者身上. 这些发现提高了对LGMDR8遗传学和诊断的理解.

科学领域:

遗传学遗传学是一个
神经学神经学
分子生物学分子生物学

背景情况:

肢体腰带肌肉缩自体衰退8 (LGMDR8) 是一种罕见的神经肌肉疾病.
它是由TRIM32基因中的双变体引起的.

研究的目的:

报告一个新型LGMDR8患者的综合发现.
描述临床,分子,组织病理和肌肉MRI特征.
为了解TRIM32变种做出贡献,提高诊断准确度.

主要方法:

临床外体序列测序用于识别遗传变异.
详细的临床评估和病史.
对之前报告的TRIM32变种和LGMDR8病例的文献综述.

主要成果:

一名63岁的LGMDR8患者被确定,24年来没有被诊断出来.
发现了两个新型化合物异质合体TRIM32误解变体 (c.1181G > A p.(Arg394His) 和c.1781G > A p.(Ser594Asp).
这是LGMDR8在这些特定的TRIM32突变中首次报告的LGMDR8复合异构变异的病例.

结论:

这些发现扩大了LGMDR8.8中TRIM32的突变谱.
这一案例提供了进一步的证据,证明了已识别的变种的致病性.
建议改善LGMDR8的遗传咨询和诊断策略.

关键词:

在LGMDR8中,在TRIM32中,我们可以使用TRIM32.临床外基因组测序肢体-腰带肌肉发育不良症肌肉发育不良症含有三部分基因的蛋白质.

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